Canonical Allele Identifier: CA631764680
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1295265913
gnomAD v2: 19-11218898-A-AAC
MyVariant Identifiers: chr19:g.11218898_11218899insAC (hg19) chr19:g.11108222_11108223insAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11108223_11108224insCA , CM000681.2:g.11108223_11108224insCA GRCh38
NC_000019.9:g.11218899_11218900insCA , CM000681.1:g.11218899_11218900insCA GRCh37
NC_000019.8:g.11079899_11079900insCA NCBI36
NG_009060.1:g.23843_23844insCA , LRG_274:g.23843_23844insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+709_1198+710insCA ENSP00000252444.6:n.1198+709_1198+710insCA
ENST00000559340.2:c.940+709_940+710insCA ENSP00000453696.2:n.940+709_940+710insCA
ENST00000560467.2:c.940+709_940+710insCA ENSP00000453513.2:n.940+709_940+710insCA
ENST00000558518.6:c.940+709_940+710insCA MANE Select ENSP00000454071.1:n.940+709_940+710insCA
ENST00000252444.9:c.1194+709_1194+710insCA
ENST00000455727.6:c.436+709_436+710insCA ENSP00000397829.2:n.436+709_436+710insCA
ENST00000535915.5:c.817+709_817+710insCA ENSP00000440520.1:n.817+709_817+710insCA
ENST00000545707.5:c.559+709_559+710insCA ENSP00000437639.1:n.559+709_559+710insCA
ENST00000557933.5:c.940+709_940+710insCA ENSP00000453557.1:n.940+709_940+710insCA
ENST00000558013.5:c.940+709_940+710insCA ENSP00000453346.1:n.940+709_940+710insCA
ENST00000558518.5:c.940+709_940+710insCA ENSP00000454071.1:n.940+709_940+710insCA
ENST00000560467.1:c.540+709_540+710insCA
NM_000527.4:c.940+709_940+710insCA , LRG_274t1:c.940+709_940+710insCA NP_000518.1:n.940+709_940+710insCA
NM_001195798.1:c.940+709_940+710insCA NP_001182727.1:n.940+709_940+710insCA
NM_001195799.1:c.817+709_817+710insCA NP_001182728.1:n.817+709_817+710insCA
NM_001195800.1:c.436+709_436+710insCA NP_001182729.1:n.436+709_436+710insCA
NM_001195803.1:c.559+709_559+710insCA NP_001182732.1:n.559+709_559+710insCA
XM_011528010.1:c.940+709_940+710insCA XP_011526312.1:n.940+709_940+710insCA
XM_011528011.1:c.559+709_559+710insCA XP_011526313.1:n.559+709_559+710insCA
XR_244074.2:n.1090+709_1090+710insCA
XM_011528010.2:c.940+709_940+710insCA XP_011526312.1:n.940+709_940+710insCA
XR_001753685.2:n.1057+709_1057+710insCA
XR_001753686.2:n.1057+709_1057+710insCA
NM_000527.5:c.940+709_940+710insCA MANE Select NP_000518.1:n.940+709_940+710insCA
NM_001195798.2:c.940+709_940+710insCA NP_001182727.1:n.940+709_940+710insCA
NM_001195799.2:c.817+709_817+710insCA NP_001182728.1:n.817+709_817+710insCA
NM_001195800.2:c.436+709_436+710insCA NP_001182729.1:n.436+709_436+710insCA
NM_001195803.2:c.559+709_559+710insCA NP_001182732.1:n.559+709_559+710insCA
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